Williams syndrome presenting with findings consistent with Alagille syndrome

Conjugated hyperbilirubinemia, posterior embryotoxon, and vertebral anomalies are not features of William syndrome (WS). We herein report a preterm infant who presented with features suggestive of Alagille syndrome, but microarray showed findings consistent with WS. This further extends the phenotyp...

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Detalles Bibliográficos
Autores principales: Sakhuja, Pankaj, Whyte, Hilary, Kamath, Binita, Martin, Nicole, Chitayat, David
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BlackWell Publishing Ltd 2015
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4317206/
https://www.ncbi.nlm.nih.gov/pubmed/25678968
http://dx.doi.org/10.1002/ccr3.138

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